1,814 research outputs found

    Metspalu, A

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    Metspalu, A.

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    Mitochondrial DNA signals of late glacial recolonization of Europe from near Eastern refugia

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    Human populations, along with those of many other species, are thought to have contracted into a number of refuge areas at the height of the last Ice Age. European populations are believed to be, to a large extent, the descendants of the inhabitants of these refugia, and some extant mtDNA lineages can be traced to refugia in Franco-Cantabria (haplogroups H1, H3, V, and U5b1), the Italian Peninsula (U5b3), and the East European Plain (U4 and U5a). Parts of the Near East, such as the Levant, were also continuously inhabited throughout the Last Glacial Maximum, but unlike western and eastern Europe, no archaeological or genetic evidence for Late Glacial expansions into Europe from the Near East has hitherto been discovered. Here we report, on the basis of an enlarged whole-genome mitochondrial database, that a substantial, perhaps predominant, signal from mitochondrial haplogroups J and T, previously thought to have spread primarily from the Near East into Europe with the Neolithic population, may in fact reflect dispersals during the Late Glacial period, ?19–12 thousand years (ka) ago.<br/

    The Genetic Ancestry of Modern Indus Valley Populations from Northwest India

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    The Indus Valley has been the backdrop for several historic and prehistoric population movements between South Asia and West Eurasia. However, the genetic structure of present-day populations from Northwest India is poorly characterized. Here we report new genome-wide genotype data for 45 modern individuals from four Northwest Indian populations, including the Ror, whose long-term occupation of the region can be traced back to the early Vedic scriptures. Our results suggest that although the genetic architecture of most Northwest Indian populations fits well on the broader North-South Indian genetic cline, culturally distinct groups such as the Ror stand out by being genetically more akin to populations living west of India; such populations include prehistorical and early historical ancient individuals from the Swat Valley near the Indus Valley. We argue that this affinity is more likely a result of genetic continuity since the Bronze Age migrations from the Steppe Belt than a result of recent admixture. The observed patterns of genetic relationships both with modern and ancient West Eurasians suggest that the Ror can be used as a proxy for a population descended from the Ancestral North Indian (ANI) population. Collectively, our results show that the Indus Valley populations are characterized by considerable genetic heterogeneity that has persisted over thousands of years.sponsorship: We thank the Ror, Gujjar, Kamboj, and Jat communities for their support of this study and all individual volunteers for donating their samples. R.V. thanks the Swedish Collegium for Advanced Studies for support during his sabbatical stay in Uppsala. We thank Lehti Saag, Bayazit Yunusbayev, Hovhannes Sahakyan, Jose Rodrigo Flores Espinoza, and Erwan Pennarun for useful discussions and assistance. We thank Tuuli Reisberg for her assistance in genotype data curation. We also thank Mari Jarve for language editing. All data analyses were performed at the High-Performance Computer Centre of the University of Tartu, Estonia (http://www.hpc.ut.ee).Support was provided by the European Union through the European Regional Development Fund Centre of Excellence for Genomics and Translational Medicine (project no. 2014-2020.4.01.15-0012) to the EBC-IG and by the Estonian Institutional Research grant IUT24-1 (to A.K.P., R.V., M. Metspalu, S.R., E.M., and T.K.). M. Metspalu was supported by Estonian Research Council grant PRG 243. M. Mondal was supported by the European Union through the European Regional Development Fund (project no. 2014-2020.4.01.16-0030). G.C. is supported by National Geographic Explorer grant HJ3-182R-18, A.K. was supported by Estonian Personal grant PUT 1339, and L.P. was supported by the European Union through the European Regional Development Fund (project no. 2014-2020.4.01.16-0024, MOBTT53). A.K.P. was supported by the European Social Fund's Doctoral Studies and Internationalization Programme DoRa. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. (European Union through the European Regional Development Fund Centre of Excellence for Genomics and Translational Medicine|2014-2020.4.01.15-0012, Estonian Research Council|PRG 243, European Union through the European Regional Development Fund|2014-2020.4.01.16-0030, European Union through the European Regional Development Fund|2014-2020.4.01.16-0024, European Union through the European Regional Development Fund|MOBTT53, National Geographic Explorer grant|HJ3-182R-18, Estonian Personal grant|PUT 1339, Estonian Institutional Research grant|IUT24-1, European Social Fund's Doctoral Studies and Internationalization Programme DoRa)status: Publishe

    History of the Diagnosis of a Sexually Transmitted Disease is Linked to Normal Variation in Personality Traits

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    Introduction. Stable individual differences in personality traits have well-documented associations with various aspects of health. One of the health outcomes that directly depends on people's behavioral choices, and may therefore be linked to personality traits, is having a sexually transmitted disease (STD).Aim. The study examines the associations between a comprehensive set of basic personality traits and past STD history in a demographically diverse sample.Methods. Participants were 2,110 Estonians (1,175 women) between the ages of 19 and 89 (mean age 45.8 years, SD = 17.0). The five-factor model personality traits (Neuroticism, Extraversion, Openness to Experience, Agreeableness, and Conscientiousness) and their specific facets were rated by participants themselves and knowledgeable informants. Sex, age, and educational level were controlled for.Main Outcome Measure. History of STD diagnosis based on medical records and/or self-report.Results. History of STD diagnosis was associated with higher Neuroticism and lower Agreeableness in both self- and informant-ratings. Among the specific personality facets, the strongest correlates of STD were high hostility and impulsiveness and low deliberation.Conclusions. Individual differences in several personality traits are associated with a history of STD diagnosis. Assuming that certain personality traits may predispose people to behaviors that entail a higher risk for STD, these findings can be used for the early identification of people at greater STD risk and for developing personality-tailored intervention programs. Mottus R, Realo A, Allik J, Esko T, and Metspalu A. History of the diagnosis of a sexually transmitted disease is linked to normal variation in personality traits. J Sex Med 2012;9:2861-2867.</p

    Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool

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    Ethnic Belarusians make up more than 80% of the nine and half million people inhabiting the Republic of Belarus. Belarusians together with Ukrainians and Russians represent the East Slavic linguistic group, largest both in numbers and territory, inhabiting East Europe alongside Baltic-, Finno-Permic- and Turkic-speaking people. Till date, only a limited number of low resolution genetic studies have been performed on this population. Therefore, with the phylogeographic analysis of 565 Y-chromosomes and 267 mitochondrial DNAs from six well covered geographic sub-regions of Belarus we strove to complement the existing genetic profile of eastern Europeans. Our results reveal that around 80% of the paternal Belarusian gene pool is composed of R1a, I2a and N1c Y-chromosome haplogroups – a profile which is very similar to the two other eastern European populations – Ukrainians and Russians. The maternal Belarusian gene pool encompasses a full range of West Eurasian haplogroups and agrees well with the genetic structure of central-east European populations. Our data attest that latitudinal gradients characterize the variation of the uniparentally transmitted gene pools of modern Belarusians. In particular, the Y-chromosome reflects movements of people in central-east Europe, starting probably as early as the beginning of the Holocene. Furthermore, the matrilineal legacy of Belarusians retains two rare mitochondrial DNA haplogroups, N1a3 and N3, whose phylogeographies were explored in detail after de novo sequencing of 20 and 13 complete mitogenomes, respectively, from all over Eurasia. Our phylogeographic analyses reveal that two mitochondrial DNA lineages, N3 and N1a3, both of Middle Eastern origin, might mark distinct events of matrilineal gene flow to Europe: during the mid-Holocene period and around the Pleistocene-Holocene transition, respectively

    The Arrival of Siberian Ancestry Connecting the Eastern Baltic to Uralic Speakers further East

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    In this study, we compare the genetic ancestry of individuals from two as yet genetically unstudied cultural traditions in Estonia in the context of available modern and ancient datasets: 15 from the Late Bronze Age stone-cist graves (1200-400 BC) (EstBA) and 6 from the Pre-Roman Iron Age tarand cemeteries (800/500 BC-50 AD) (EstIA). We also included 5 Pre-Roman to Roman Iron Age Ingrian (500 BC-450 AD) (IngIA) and 7 Middle Age Estonian (1200-1600 AD) (EstMA) individuals to build a dataset for studying the demographic history of the northern parts of the Eastern Baltic from the earliest layer of Mesolithic to modern times. Our findings are consistent with EstBA receiving gene flow from regions with strong Western hunter-gatherer (WHG) affinities and EstIA from populations related to modern Siberians. The latter inference is in accordance with Y chromosome (chrY) distributions in present day populations of the Eastern Baltic, as well as patterns of autosomal variation in the majority of the westernmost Uralic speakers [1-5]. This ancestry reached the coasts of the Baltic Sea no later than the mid-first millennium BC; i.e., in the same time window as the diversification of west Uralic (Finnic) languages [6]. Furthermore, phenotypic traits often associated with modern Northern Europeans, like light eyes, hair, and skin, as well as lactose tolerance, can be traced back to the Bronze Age in the Eastern Baltic. VIDEO ABSTRACT.sponsorship: This work was funded by research projects of the Estonian Research Council IUT24-1 (R.V., T.K., E.M., M. Metspalu, A. Kushniarevich, Lauri Saag, and K.T.), IUT20-7 (V.L., A. Kriiska, H.V., M.L.,and M. Malve), IUT34-11 (M.R.), PUT1217 (K.T., Lauri Saag, and Lehti Saag), PRG243 (M. Metspalu, Lauri Saag, C.L.S., R.M., Lehti Saag, and A.S.), and PUT1339 (A. Kushniarevich); of the EU European Regional Development Fund 2014-2020.4.01.16-0030, 2014-2020.4.01.16-0125, and 2014-2020.4.01.15-0012; European Research Council Starting Investigator Grant FP7-261213 (T.K.); Wellcome Trust Senior Research Fellowship Grant 100719/Z/12/Z (M.G.T.); Sapienza University of Rome fellowship "borsa di studio per attivita di perfezionamento all'estero 2017" (E.D.); and Arheograator Ltd. (L.V. and A. Kriiska). The authors would like to thank the University of Tartu Development Fund for support to the Collegium for Transdisciplinary Studies in Archaeology, Genetics and Linguistics. We thank Ajai Kumar Pathak and Tarmo Puurand for help with analyses. Analyses were carried out using the facilities of the High Performance Computing Center of the University of Tartu. (Estonian Research Council|IUT24-1, Estonian Research Council|IUT20-7, Estonian Research Council|IUT34-11, Estonian Research Council|PUT1217, Estonian Research Council|PRG243, Estonian Research Council|PUT1339, EU European Regional Development Fund|2014-2020.4.01.16-0030, EU European Regional Development Fund|2014-2020.4.01.16-0125, EU European Regional Development Fund|2014-2020.4.01.15-0012, European Research Council|FP7-261213, Wellcome Trust|100719/Z/12/Z, Sapienza University of Rome fellowship "borsa di studio per attivita di perfezionamento all'estero 2017", Arheograator Ltd., University of Tartu Development Fund, Wellcome Trust|100719/Z/12/Z)status: Publishe
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